Conditions / Syndrome
Senior-Loken syndrome 8
info · Syndrome
A Senior-Loken syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
Signs and symptoms
- Stage 5 chronic kidney disease
- Nephronophthisis
- Glomerular subepithelial immune-complex deposits
- Global glomerulosclerosis
- Rod-cone dystrophy
- Intrahepatic bile duct dilatation
- Pallor
- Reduced visual acuity
- Vascular dilatation
- Visual impairment